Incidental Mutation 'R4661:Atp10a'
ID 352851
Institutional Source Beutler Lab
Gene Symbol Atp10a
Ensembl Gene ENSMUSG00000025324
Gene Name ATPase, class V, type 10A
Synonyms pfatp, Atp10c
MMRRC Submission 041600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R4661 (G1)
Quality Score 217
Status Not validated
Chromosome 7
Chromosomal Location 58305914-58479168 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TGGCGGCGGC to TGGCGGC at 58308248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168747] [ENSMUST00000207668]
AlphaFold O54827
Predicted Effect probably benign
Transcript: ENSMUST00000168747
SMART Domains Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 55 114 5.2e-23 PFAM
Pfam:E1-E2_ATPase 120 393 6.6e-10 PFAM
low complexity region 633 643 N/A INTRINSIC
Pfam:Cation_ATPase 685 791 1.5e-7 PFAM
Pfam:HAD 697 1054 2.1e-12 PFAM
Pfam:PhoLip_ATPase_C 1071 1316 1.1e-76 PFAM
low complexity region 1458 1477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207668
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T C 9: 44,198,627 (GRCm39) N42D probably damaging Het
Adamdec1 G A 14: 68,807,562 (GRCm39) T366I probably damaging Het
Adamts7 C A 9: 90,075,383 (GRCm39) H1038Q probably benign Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Amhr2 A T 15: 102,362,688 (GRCm39) D485V probably damaging Het
Arhgap35 A T 7: 16,298,663 (GRCm39) F134Y probably damaging Het
Asxl3 A G 18: 22,649,534 (GRCm39) T508A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Atp9a A G 2: 168,479,592 (GRCm39) F928L possibly damaging Het
BC034090 A T 1: 155,108,221 (GRCm39) D13E probably damaging Het
Bco1 A G 8: 117,855,980 (GRCm39) E425G probably benign Het
Brsk1 T C 7: 4,710,298 (GRCm39) S436P possibly damaging Het
C1s1 T C 6: 124,513,449 (GRCm39) I193V probably benign Het
Calb2 A G 8: 110,894,709 (GRCm39) F21L probably benign Het
Catsperz T G 19: 6,902,171 (GRCm39) T108P probably benign Het
Cep57l1 T A 10: 41,595,767 (GRCm39) D329V possibly damaging Het
Cfdp1 A G 8: 112,557,577 (GRCm39) F188S probably benign Het
Chrna2 G A 14: 66,386,292 (GRCm39) G146D probably damaging Het
Col6a1 A C 10: 76,550,506 (GRCm39) F520V unknown Het
Cyb5d2 C A 11: 72,669,771 (GRCm39) V43L probably damaging Het
Cyp2c40 T C 19: 39,775,290 (GRCm39) T321A probably benign Het
Dnajc16 A C 4: 141,490,859 (GRCm39) Y764D probably damaging Het
Dsg1a G A 18: 20,473,590 (GRCm39) V888M probably damaging Het
F5 A C 1: 164,012,489 (GRCm39) T468P probably damaging Het
Faap24 A G 7: 35,094,509 (GRCm39) M97T probably benign Het
Fam227b A T 2: 125,849,230 (GRCm39) I334N probably damaging Het
Frem2 G T 3: 53,562,864 (GRCm39) P548T probably damaging Het
Gfm1 A G 3: 67,340,731 (GRCm39) E94G probably damaging Het
Gm17606 A T 14: 54,885,696 (GRCm39) probably benign Het
Gnb2 A T 5: 137,528,515 (GRCm39) M1K probably null Het
Gys1 G A 7: 45,104,258 (GRCm39) A544T probably damaging Het
Hdac5 T C 11: 102,096,675 (GRCm39) Y230C probably damaging Het
Hunk A T 16: 90,244,196 (GRCm39) probably null Het
Ifnl2 A G 7: 28,209,635 (GRCm39) F51L probably damaging Het
Itpr1 T C 6: 108,387,892 (GRCm39) probably null Het
Kcnj1 A G 9: 32,307,918 (GRCm39) Y114C probably benign Het
Kdm4b T A 17: 56,706,459 (GRCm39) S322T probably damaging Het
Kif27 T C 13: 58,471,730 (GRCm39) E786G probably damaging Het
Kif6 T C 17: 50,060,909 (GRCm39) V414A probably benign Het
L1td1 A G 4: 98,621,861 (GRCm39) K141R possibly damaging Het
Loxhd1 A G 18: 77,490,581 (GRCm39) I1394V possibly damaging Het
Lrfn5 A T 12: 61,886,433 (GRCm39) M74L probably damaging Het
Lrp6 C T 6: 134,488,230 (GRCm39) D289N probably benign Het
Mroh7 A G 4: 106,548,710 (GRCm39) probably null Het
Muc4 A C 16: 32,589,651 (GRCm39) E2885A possibly damaging Het
Myo18b G T 5: 113,023,041 (GRCm39) probably benign Het
Ncln G A 10: 81,328,902 (GRCm39) A172V probably damaging Het
Nek9 G A 12: 85,367,666 (GRCm39) T335M possibly damaging Het
Notch2 A G 3: 98,042,829 (GRCm39) Y1398C probably damaging Het
Or10g6 A T 9: 39,933,823 (GRCm39) I45F probably damaging Het
Or2d4 T A 7: 106,544,074 (GRCm39) I45F probably damaging Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pde6c A G 19: 38,157,887 (GRCm39) Y637C probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Pold1 G T 7: 44,182,233 (GRCm39) P1100T probably damaging Het
Prune2 T C 19: 16,977,387 (GRCm39) Y41H probably damaging Het
Rgl2 C T 17: 34,152,200 (GRCm39) A329V possibly damaging Het
Rilp T A 11: 75,402,250 (GRCm39) Y250N probably damaging Het
Rilpl1 A G 5: 124,652,751 (GRCm39) V19A probably benign Het
Rtp3 T C 9: 110,815,519 (GRCm39) probably null Het
Rufy4 A G 1: 74,172,266 (GRCm39) K246E probably damaging Het
Saraf C A 8: 34,635,616 (GRCm39) A306E probably damaging Het
Slc26a8 A T 17: 28,857,658 (GRCm39) N828K probably benign Het
Src C T 2: 157,311,852 (GRCm39) P527S probably damaging Het
Susd3 C T 13: 49,384,778 (GRCm39) probably null Het
Syngap1 T C 17: 27,185,880 (GRCm39) L1270P probably damaging Het
Taf1c G A 8: 120,325,589 (GRCm39) P758S probably damaging Het
Tenm2 A T 11: 35,915,275 (GRCm39) N2087K probably damaging Het
Tfrc A T 16: 32,448,969 (GRCm39) I703F probably damaging Het
Thap1 C G 8: 26,650,874 (GRCm39) T48S probably benign Het
Tspear T C 10: 77,702,163 (GRCm39) F199L probably benign Het
Usp17lc A T 7: 103,067,797 (GRCm39) H364L probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Homo
Vmn1r1 T C 1: 181,984,789 (GRCm39) E292G possibly damaging Het
Vmn1r125 T G 7: 21,006,552 (GRCm39) V150G probably damaging Het
Vmn1r167 A T 7: 23,204,117 (GRCm39) L300I probably damaging Het
Vmn2r106 A C 17: 20,487,885 (GRCm39) I838S probably benign Het
Wdr64 A T 1: 175,554,060 (GRCm39) S197C probably damaging Het
Zfp248 A T 6: 118,410,268 (GRCm39) V47E possibly damaging Het
Other mutations in Atp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Atp10a APN 7 58,444,230 (GRCm39) missense probably benign 0.06
IGL00973:Atp10a APN 7 58,457,218 (GRCm39) missense probably damaging 1.00
IGL00984:Atp10a APN 7 58,308,489 (GRCm39) missense probably damaging 1.00
IGL01086:Atp10a APN 7 58,474,066 (GRCm39) missense probably damaging 0.96
IGL01296:Atp10a APN 7 58,463,373 (GRCm39) missense probably benign 0.02
IGL01731:Atp10a APN 7 58,447,310 (GRCm39) missense probably benign 0.16
IGL02081:Atp10a APN 7 58,477,604 (GRCm39) missense possibly damaging 0.62
IGL02095:Atp10a APN 7 58,457,141 (GRCm39) missense probably damaging 1.00
IGL02549:Atp10a APN 7 58,469,481 (GRCm39) missense probably benign 0.00
IGL02558:Atp10a APN 7 58,469,390 (GRCm39) missense probably damaging 0.98
IGL02659:Atp10a APN 7 58,463,379 (GRCm39) missense probably benign
IGL02986:Atp10a APN 7 58,478,469 (GRCm39) missense probably benign
IGL03218:Atp10a APN 7 58,438,196 (GRCm39) critical splice donor site probably null
PIT4260001:Atp10a UTSW 7 58,440,866 (GRCm39) nonsense probably null
PIT4445001:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
PIT4810001:Atp10a UTSW 7 58,463,596 (GRCm39) missense probably damaging 0.99
R0091:Atp10a UTSW 7 58,423,794 (GRCm39) splice site probably benign
R0349:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
R0426:Atp10a UTSW 7 58,434,482 (GRCm39) missense probably benign 0.00
R0609:Atp10a UTSW 7 58,469,488 (GRCm39) splice site probably null
R0722:Atp10a UTSW 7 58,465,931 (GRCm39) missense possibly damaging 0.75
R0741:Atp10a UTSW 7 58,478,337 (GRCm39) missense possibly damaging 0.90
R1172:Atp10a UTSW 7 58,453,514 (GRCm39) missense probably benign 0.05
R1342:Atp10a UTSW 7 58,465,894 (GRCm39) splice site probably benign
R1648:Atp10a UTSW 7 58,434,575 (GRCm39) missense probably damaging 1.00
R1715:Atp10a UTSW 7 58,436,253 (GRCm39) missense probably damaging 0.98
R1737:Atp10a UTSW 7 58,476,986 (GRCm39) splice site probably benign
R1799:Atp10a UTSW 7 58,474,182 (GRCm39) missense probably damaging 1.00
R1909:Atp10a UTSW 7 58,478,460 (GRCm39) missense probably benign 0.12
R1918:Atp10a UTSW 7 58,477,683 (GRCm39) missense possibly damaging 0.82
R2031:Atp10a UTSW 7 58,477,678 (GRCm39) nonsense probably null
R2080:Atp10a UTSW 7 58,474,075 (GRCm39) missense probably damaging 0.97
R2424:Atp10a UTSW 7 58,444,303 (GRCm39) missense probably benign 0.16
R2696:Atp10a UTSW 7 58,463,366 (GRCm39) missense probably benign 0.00
R3932:Atp10a UTSW 7 58,476,852 (GRCm39) missense possibly damaging 0.69
R4198:Atp10a UTSW 7 58,463,434 (GRCm39) missense probably damaging 1.00
R4453:Atp10a UTSW 7 58,308,248 (GRCm39) small deletion probably benign
R4632:Atp10a UTSW 7 58,457,186 (GRCm39) missense possibly damaging 0.48
R4782:Atp10a UTSW 7 58,440,843 (GRCm39) missense probably benign
R4888:Atp10a UTSW 7 58,435,055 (GRCm39) missense probably damaging 1.00
R4935:Atp10a UTSW 7 58,463,512 (GRCm39) missense probably damaging 1.00
R5051:Atp10a UTSW 7 58,389,994 (GRCm39) frame shift probably null
R5213:Atp10a UTSW 7 58,423,731 (GRCm39) missense probably damaging 0.99
R5617:Atp10a UTSW 7 58,453,423 (GRCm39) missense probably benign 0.06
R5834:Atp10a UTSW 7 58,308,366 (GRCm39) missense probably benign 0.01
R5885:Atp10a UTSW 7 58,463,548 (GRCm39) missense possibly damaging 0.92
R6013:Atp10a UTSW 7 58,447,538 (GRCm39) missense probably benign 0.05
R6136:Atp10a UTSW 7 58,478,088 (GRCm39) missense probably benign
R6269:Atp10a UTSW 7 58,453,487 (GRCm39) missense possibly damaging 0.51
R6380:Atp10a UTSW 7 58,469,432 (GRCm39) nonsense probably null
R6743:Atp10a UTSW 7 58,447,562 (GRCm39) missense possibly damaging 0.89
R6875:Atp10a UTSW 7 58,447,100 (GRCm39) missense probably benign 0.01
R6975:Atp10a UTSW 7 58,423,733 (GRCm39) missense probably damaging 1.00
R7082:Atp10a UTSW 7 58,308,567 (GRCm39) missense probably damaging 1.00
R7203:Atp10a UTSW 7 58,436,221 (GRCm39) missense probably benign
R7224:Atp10a UTSW 7 58,447,219 (GRCm39) missense probably benign 0.00
R7287:Atp10a UTSW 7 58,477,017 (GRCm39) missense probably damaging 1.00
R7437:Atp10a UTSW 7 58,308,288 (GRCm39) missense unknown
R7474:Atp10a UTSW 7 58,308,275 (GRCm39) missense unknown
R7530:Atp10a UTSW 7 58,423,724 (GRCm39) missense probably benign 0.02
R7561:Atp10a UTSW 7 58,476,881 (GRCm39) missense probably damaging 0.98
R7743:Atp10a UTSW 7 58,453,457 (GRCm39) missense probably damaging 1.00
R7767:Atp10a UTSW 7 58,308,597 (GRCm39) missense probably damaging 1.00
R7861:Atp10a UTSW 7 58,438,107 (GRCm39) missense probably damaging 1.00
R7903:Atp10a UTSW 7 58,308,570 (GRCm39) missense probably damaging 1.00
R8015:Atp10a UTSW 7 58,453,245 (GRCm39) missense probably benign 0.00
R8166:Atp10a UTSW 7 58,457,270 (GRCm39) missense possibly damaging 0.46
R8201:Atp10a UTSW 7 58,469,424 (GRCm39) nonsense probably null
R8465:Atp10a UTSW 7 58,478,058 (GRCm39) missense probably benign 0.32
R8858:Atp10a UTSW 7 58,465,971 (GRCm39) missense probably damaging 1.00
R8985:Atp10a UTSW 7 58,438,092 (GRCm39) missense probably benign 0.03
R9003:Atp10a UTSW 7 58,457,203 (GRCm39) missense probably damaging 1.00
R9274:Atp10a UTSW 7 58,478,369 (GRCm39) missense probably benign 0.22
R9385:Atp10a UTSW 7 58,477,887 (GRCm39) missense probably benign 0.00
R9432:Atp10a UTSW 7 58,469,418 (GRCm39) missense possibly damaging 0.95
R9454:Atp10a UTSW 7 58,308,339 (GRCm39) missense probably benign
R9596:Atp10a UTSW 7 58,477,553 (GRCm39) missense probably damaging 1.00
R9736:Atp10a UTSW 7 58,474,078 (GRCm39) missense probably damaging 1.00
Z1176:Atp10a UTSW 7 58,438,195 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTAGACCTGGAAGTCTGGACAG -3'
(R):5'- GAAGGACAGCAGCGTGTACTTG -3'

Sequencing Primer
(F):5'- TGGAAGTCTGGACAGGCTGC -3'
(R):5'- AGCAGCGTGTACTTGGTGGTC -3'
Posted On 2015-10-08